Dynamin-2 nervous system disorders
Author
Abstract
Dynamin-2 is a pleiotropic GTPase whose best-known function
is related to membrane scission during vesicle budding
from the plasma or Golgi membranes. In the nervous system,
dynamin-2 participates in synaptic vesicle recycling, postsynaptic
receptor internalization, neurosecretion, and neuronal
process extension. Some of these functions are shared with
the other two dynamin isoforms. However, the involvement of
dynamin-2 in neurological illnesses points to a critical function
of this isoform in the nervous system. In this regard, mutations
in the dynamin-2 gene results in two congenital neuromuscular
disorders. One of them, Charcot-Marie-Tooth disease, affects
myelination and peripheral nerve conduction, whereas the
other, Centronuclear Myopathy, is characterized by a progressive
and generalized atrophy of skeletal muscles, yet it is also
associated with abnormalities in the nervous system. Furthermore,
single nucleotide polymorphisms located in the dynamin-
2 gene have been associated with sporadic Alzheimer’s
disease. In the present review, we discuss the pathogenic
mechanisms implicated in these neurological disorders.
General note
Artículo de publicación ISI
Patrocinador
Fondecyt 1110552 (Chile); Proyecto Anillo ACT-1121 (CONICYT);
Fondos ICM-ECONOMIA Project P09-022-F (Chile).
Quote Item
JOURNAL OF NEUROCHEMISTRY | 2014 | 128 | 210–223
Collections